Zobrazeno 1 - 10
of 178
pro vyhledávání: '"Pediatric genetic disorders"'
Autor:
Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt, Li Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccurate medical diagnosi
Externí odkaz:
https://doaj.org/article/a1c862a7efc84dd4bba5497e01e686c0
Akademický článek
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Autor:
Bharti R. Nihalani
Publikováno v:
Journal of pediatric genetics. 3(4)
Pediatric genetic disorders of lens include various cataractous and non-cataractous anomalies. The purpose of this review is to help determine the genetic cause based on the lens appearance, ocular and systemic associations. Children with bilateral c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a49a66b478a7d150acaea6b0b6ff3e7f
https://pubmed.ncbi.nlm.nih.gov/27625879
https://pubmed.ncbi.nlm.nih.gov/27625879
Autor:
Seyed Mohammad Akrami, Laleh Habibi
Publikováno v:
Journal of pediatric genetics. 3(1)
Pediatric disorders are generally observed to have a greater genetic load than diseases occurring during adulthood. Clinical manifestations of many genetic defects including chromosomal abnormalities and mutations in specific genes appear during chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e09f50fffd7b669e9f259562fcf140
https://pubmed.ncbi.nlm.nih.gov/27625862
https://pubmed.ncbi.nlm.nih.gov/27625862
Autor:
Akrami SM; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Habibi L; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Nanotechnology Research Center, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran.
Publikováno v:
Journal of pediatric genetics [J Pediatr Genet] 2014 Mar; Vol. 3 (1), pp. 9-16.
Autor:
Nihalani BR; Department of Pediatric Ophthalmology and Strabismus, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Publikováno v:
Journal of pediatric genetics [J Pediatr Genet] 2014 Dec; Vol. 3 (4), pp. 219-27.
Autor:
Anwar Al Mansoor
Publikováno v:
International Journal of Growth and Development. 1:14
Pediatric patients with genetic disorders are an often overlooked subpopulation, though they pose serious nutritional and medical challenges. Many genetic disorders are prevalent in the UAE and in the larger Middle Eastern region due to cultural trad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8944899d291ed1e54806675136722136
https://doi.org/10.25081/ijgd.2017.v1i1.15
https://doi.org/10.25081/ijgd.2017.v1i1.15
The effect of a single genetic mutation can vary greatly between different types of cells. The mutated gene may not be expressed in one tissue but may cause a devastating loss of function in another. To learn about disease mechanisms and generate nov
Externí odkaz:
http://dissertations.umi.com/gsas.harvard:11410
http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274294
http://nrs.harvard.edu/urn-3:HUL.InstRepos:12274294
Akademický článek
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Autor:
Cheryl Mele
Publikováno v:
Journal of pediatric nursing. 27(2)
Nurses need to be abreast of genetic technological developments and complications because the fate of future treatments for pediatric disorders will rely within the genes. RECOGNITION THAT CERTAIN pediatric hereditary disorders are based upon definit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8137b9235ebef715ee82c6964ccec00c
https://pubmed.ncbi.nlm.nih.gov/22210195
https://pubmed.ncbi.nlm.nih.gov/22210195